Variant report

Variant	rs12672589
Chromosome Location	chr7:139940632-139940633
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139873923..139877413-chr7:139940595..139943444,4	K562	blood:
2	chr7:139875299..139879163-chr7:139938303..139941745,4	MCF-7	breast:
3	chr7:139929755..139932903-chr7:139938921..139941351,3	K562	blood:

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17161447	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58263911	0.83[EUR][1000 genomes]
rs58599202	0.83[EUR][1000 genomes]
rs61580118	0.83[EUR][1000 genomes]
rs6464620	0.83[EUR][1000 genomes]
rs6943904	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6944218	0.83[EUR][1000 genomes]
rs6944258	0.81[EUR][1000 genomes]
rs73473567	0.81[EUR][1000 genomes]
rs73473571	0.90[EUR][1000 genomes]
rs73473582	0.83[EUR][1000 genomes]
rs73473584	0.83[EUR][1000 genomes]
rs7787388	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139931600-139941000	Weak transcription	Small Intestine	intestine
2	chr7:139931800-139942000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:139933800-139941400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:139934000-139941600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:139936800-139942600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr7:139937200-139942000	Weak transcription	Spleen	Spleen
7	chr7:139937800-139944000	Enhancers	Fetal Intestine Small	intestine
8	chr7:139937800-139944200	Enhancers	Fetal Intestine Large	intestine
9	chr7:139939000-139941600	Weak transcription	Pancreas	Pancrea
10	chr7:139939200-139941800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:139939400-139942000	Enhancers	Colonic Mucosa	Colon
12	chr7:139939600-139941200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:139939600-139941600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:139939600-139941800	Weak transcription	Placenta	Placenta
15	chr7:139939600-139942000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:139939600-139942000	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:139939800-139940800	Weak transcription	K562	blood
18	chr7:139939800-139941000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:139939800-139941000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:139939800-139941000	Weak transcription	Esophagus	oesophagus
21	chr7:139939800-139941000	Weak transcription	Gastric	stomach
22	chr7:139939800-139941200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:139939800-139942000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:139939800-139942000	Weak transcription	Left Ventricle	heart
25	chr7:139939800-139942200	Enhancers	HepG2	liver
26	chr7:139939800-139953400	Weak transcription	Lung	lung
27	chr7:139940200-139941800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:139940200-139942200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:139940600-139941600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr7:139940600-139941600	Enhancers	Stomach Mucosa	stomach

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